Article

Human iPSC-derived muscle cells as a new model for investigation of EDMD1 pathogenesis

2024-12-08

Abstract excerpt

Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is a rare genetic disease caused by mutations in the EMD gene, which encodes the nuclear envelope protein emerin. Despite understanding the genetic basis of the disease, the molecular mechanism underlying muscle and cardiac pathogenesis remains elusive. Progress is restricted by the limited availability of patient-derived samples, therefore there is an urgent need...

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Literature Corpus work: 65b66b6e-ecee-5e74-9878-0ed907d7137f
DOI: 10.1101/2024.12.08.627381

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